نتایج جستجو برای: goltz syndrome

تعداد نتایج: 621999  

Journal: :Journal of medical genetics 1971
I K Temple P MacDowall M Baraitser D J Atherton

A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye. Ocular examination revealed microcornea, iris, choroid and optic disc coloboma in the right eye. There were several erthematous and hyperpigmented areas on the body. Magnetic resonance (MR) imaging of the orbits and brain demonstrated right optic nerve hypoplasia and diffuse cortical and cere...

Journal: :Turkish Journal of Pediatric Disease 2016

Journal: :Journal of Indian Academy of Oral Medicine and Radiology 2014

2017
Sudip Kumar Ghosh Abhijit Dutta Sharmila Sarkar Shanka Subhra Nag Surajit Kumar Biswas Prabhakar Mandal

INTRODUCTION Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this ra...

2017
Kumar Nilesh Shivsagar Tewary Sameer Zope Jinesh Patel Aaditee Vande

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal invol...

Journal: :Contemporary Clinical Dentistry 2013

Journal: :Journal of IMAB - Annual Proceeding (Scientific Papers) 2008

Journal: :Medical Journal of Clinical Trials & Case Studies 2017

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